MYO9B myosin IXB [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYO9Bprovided by HGNC
Official Full Name: myosin IXBprovided by HGNC
Primary source: HGNC:HGNC:7609
See related: Ensembl:ENSG00000099331 MIM:602129
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MYR5; CELIAC4
Summary: This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Expression: Broad expression in spleen (RPKM 30.6), bone marrow (RPKM 21.4) and 24 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 19p13.11

Exon count:: 40

Annotation release	Status	Assembly	Chr	Location
109.20190905	current	GRCh38.p13 (GCF_000001405.39)	19	NC_000019.10 (17075777..17213286)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (17186591..17324104)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

findings demonstrated a key role of circMYO9B/miR-4316/FOXP4 axis in regulating breast cancer progression
Title: Circular RNA circMYO9B facilitates breast cancer cell proliferation and invasiveness via upregulating FOXP4 expression by sponging miR-4316.
Analysis of PTPN22, ZFAT and MYO9B polymorphisms in Turner Syndrome and risk of autoimmune disease.
Title: Analysis of PTPN22, ZFAT and MYO9B polymorphisms in Turner Syndrome and risk of autoimmune disease.
data indicate that polymorphisms in MY09B are associated with the risk of inflammatory bowel disease
Title: MYO9B gene polymorphisms are associated with the risk of inflammatory bowel diseases.
Mutating either of the two arginine fingers impaired the catalytic activity of Myo9b-RhoGAP.
Title: Noncanonical Myo9b-RhoGAP Accelerates RhoA GTP Hydrolysis by a Dual-Arginine-Finger Mechanism.
meta-analysis indicates that MYO9B gene polymorphisms might be not associated with coeliac disease susceptibility in Caucasians. [meta-analysis]
Title: Lack of Association between MYO9B Gene Polymorphisms and Susceptibility to Coeliac Disease in Caucasians: Evidence from a Meta-Analysis.
this meta-analysis shows that MYO9B genetic polymorphism is associated with Crohn's disease and ulcerative colitis
Title: A meta-analysis of the relationship between MYO9B gene polymorphisms and susceptibility to Crohn's disease and ulcerative colitis.
newly defined SLIT/ROBO/Myo9b/RhoA signaling pathway that restricts lung cancer progression and metastasis.
Title: Myo9b is a key player in SLIT/ROBO-mediated lung tumor suppression.
Our data suggest a link between MYO9B variants to an increased intestinal permeability in Crohn's disease patients.
Title: Myosin IXb variants and their pivotal role in maintaining the intestinal barrier: a study in Crohn's disease.
Results does not support the association of MYO9B with schizophrenia in Chinese population.
Title: Lack of genetic association between the MYO9B locus and schizophrenia in a Chinese population.
MYO9B SNPs may influence the sub-phenotypic expression of Crohn's disease but did not find an association between these MYO9B polymorphisms and intestinal permeability in IBD.
Title: Association of MYO9B gene polymorphisms with inflammatory bowel disease in Chinese Han population.

Submit: New GeneRIF Correction See all GeneRIFs (39)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Celiac disease 4 MedGen: C1857847 OMIM: 609753 GeneReviews: Not available	Compare labs

NHGRI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystem (from REACTOME)
Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystemPhagocytosis is one of the important innate immune responses that function to eliminate invading infectious agents. Monocytes, macrophages, and neutrophils are the professional phagocytic cells. Phag...
Immune System, organism-specific biosystem (from REACTOME)
Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
Innate Immune System, organism-specific biosystem (from REACTOME)
Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
Regulation of RhoA activity, organism-specific biosystem (from Pathway Interaction Database)
Regulation of RhoA activity, organism-specific biosystem
Regulation of RhoA activity
Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystem (from REACTOME)
Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystemThe actin cytoskeleton is fundamental for phagocytosis and members of the Rho family GTPases RAC and CDC42 are involved in actin cytoskeletal regulation leading to pseudopod extension. Active RAC and...
Rho GTPase cycle, organism-specific biosystem (from REACTOME)
Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MYO9B_8490 (e-PCR)
- UniSTS:467787

WI-11661 (e-PCR)
- UniSTS:81495

D19S593 (e-PCR), detects polymorphism
- UniSTS:62082

D19S899 (e-PCR), detects polymorphism
- UniSTS:13956

RH77938 (e-PCR)
- UniSTS:91074

RH65322 (e-PCR)
- UniSTS:86469

Homology

Homologs of the MYO9B gene: The MYO9B gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 270 organisms have orthologs with human gene MYO9B
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ADP binding	IDA Inferred from Direct Assay more info	PubMed
ATP binding	IDA Inferred from Direct Assay more info	PubMed
ATPase activity	IDA Inferred from Direct Assay more info	PubMed
GTPase activator activity	IDA Inferred from Direct Assay more info	PubMed
GTPase activator activity	TAS Traceable Author Statement more info
Rho GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
Roundabout binding	IPI Inferred from Physical Interaction more info	PubMed
actin binding	IDA Inferred from Direct Assay more info	PubMed
calmodulin binding	IDA Inferred from Direct Assay more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info
microfilament motor activity	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
NOT protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
NOT ARF protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
Rho protein signal transduction	IC Inferred by Curator more info	PubMed
Roundabout signaling pathway	IDA Inferred from Direct Assay more info	PubMed
actin filament-based movement	IDA Inferred from Direct Assay more info	PubMed
actin filament-based movement	TAS Traceable Author Statement more info	PubMed
positive regulation of GTPase activity	IEA Inferred from Electronic Annotation more info
regulation of Rho protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
actin cytoskeleton	TAS Traceable Author Statement more info	PubMed
actin filament	IDA Inferred from Direct Assay more info	PubMed
cell cortex	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info
cytosol	TAS Traceable Author Statement more info
membrane	HDA more info	PubMed
myosin complex	IEA Inferred from Electronic Annotation more info
perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: unconventional myosin-IXb

Names: myosin-IXb; unconventional myosin-9b

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013068.1 RefSeqGene

Range

4997..142505

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001130065.2 → NP_001123537.1 unconventional myosin-IXb isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region due to the use of an alternate splice site in the penultimate exon. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AB209997, AC020908, BC018108, BF905466, BI001923, BI827217, CN284963, DR006748

Consensus CDS

CCDS46010.1

UniProtKB/TrEMBL

Q4LE74, Q8WVD2

Related

ENSP00000471457.1, ENST00000595618.5

Conserved Domains (6) summary

cd01779
Location:7 → 112

Myosin_IXb_RA; ubitquitin-like domain of Myosin_IXb_RA

smart00015
Location:1000 → 1022

IQ; Calmodulin-binding motif

smart00242
Location:141 → 950

MYSc; Myosin. Large ATPases

cd00029
Location:1633 → 1681

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cd04407
Location:1698 → 1883

RhoGAP_myosin_IXB; RhoGAP_myosin_IXB: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in myosins IXB. Class IX myosins contain a characteristic head domain, a neck domain and a tail domain which contains a C6H2-zinc binding motif and a ...

cd01385
Location:160 → 941

MYSc_Myo9; class IX myosin, motor domain
NM_004145.4 → NP_004136.2 unconventional myosin-IXb isoform 1

See identical proteins and their annotated locations for NP_004136.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AB290184, AC020908, BC018108, BF905466, BI001923, BI827217, CN284963, DR006748

UniProtKB/Swiss-Prot

Q13459

UniProtKB/TrEMBL

B0I1T6, Q8WVD2

Related

ENSP00000471367.1, ENST00000594824.5

Conserved Domains (6) summary

cd01779
Location:7 → 112

Myosin_IXb_RA; ubitquitin-like domain of Myosin_IXb_RA

smart00015
Location:1000 → 1022

IQ; Calmodulin-binding motif

smart00242
Location:141 → 950

MYSc; Myosin. Large ATPases

cd00029
Location:1633 → 1681

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cd04407
Location:1698 → 1883

RhoGAP_myosin_IXB; RhoGAP_myosin_IXB: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in myosins IXB. Class IX myosins contain a characteristic head domain, a neck domain and a tail domain which contains a C6H2-zinc binding motif and a ...

cd01385
Location:160 → 941

MYSc_Myo9; class IX myosin, motor domain